ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=)

gnomAD frequency: 0.00002  dbSNP: rs774314281
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899404 SCV001043668 likely benign Hereditary spastic paraplegia 49 2023-06-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000899404 SCV002091145 likely benign Hereditary spastic paraplegia 49 2020-03-28 no assertion criteria provided clinical testing

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